Canonical Allele Identifier: CA2744618315

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047119_94047120insAC , CM000663.2:g.94047119_94047120insAC	GRCh38
NC_000001.10:g.94512675_94512676insAC , CM000663.1:g.94512675_94512676insAC	GRCh37
NC_000001.9:g.94285263_94285264insAC	NCBI36
NG_009073.1:g.79030_79031insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-27_2744-26insGT MANE Select	ENSP00000359245.3:n.2744-27_2744-26insGT
ENST00000649773.1:c.2522-27_2522-26insGT	ENSP00000496882.1:n.2522-27_2522-26insGT
ENST00000370225.3:c.2744-27_2744-26insGT	ENSP00000359245.3:n.2744-27_2744-26insGT
ENST00000536513.5:c.-64-7031_-64-7030insGT	ENSP00000439707.2:n.-64-7031_-64-7030insGT
NM_000350.2:c.2744-27_2744-26insGT	NP_000341.2:n.2744-27_2744-26insGT
NM_000350.3:c.2744-27_2744-26insGT MANE Select	NP_000341.2:n.2744-27_2744-26insGT